NM_007294.4(BRCA1):c.3221G>C (p.Arg1074Thr) AND Hereditary cancer-predisposing syndrome
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000164826.13
Allele description [Variation Report for NM_007294.4(BRCA1):c.3221G>C (p.Arg1074Thr)]
NM_007294.4(BRCA1):c.3221G>C (p.Arg1074Thr)
- Genes:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene] - Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.3221G>C (p.Arg1074Thr)
- HGVS:
- NC_000017.11:g.43092310C>G
- NG_005905.2:g.125674G>C
- NG_087068.1:g.1292C>G
- NM_001407571.1:c.3008G>C
- NM_001407581.1:c.3221G>C
- NM_001407582.1:c.3221G>C
- NM_001407583.1:c.3221G>C
- NM_001407585.1:c.3221G>C
- NM_001407587.1:c.3218G>C
- NM_001407590.1:c.3218G>C
- NM_001407591.1:c.3218G>C
- NM_001407593.1:c.3221G>C
- NM_001407594.1:c.3221G>C
- NM_001407596.1:c.3221G>C
- NM_001407597.1:c.3221G>C
- NM_001407598.1:c.3221G>C
- NM_001407602.1:c.3221G>C
- NM_001407603.1:c.3221G>C
- NM_001407605.1:c.3221G>C
- NM_001407610.1:c.3218G>C
- NM_001407611.1:c.3218G>C
- NM_001407612.1:c.3218G>C
- NM_001407613.1:c.3218G>C
- NM_001407614.1:c.3218G>C
- NM_001407615.1:c.3218G>C
- NM_001407616.1:c.3221G>C
- NM_001407617.1:c.3221G>C
- NM_001407618.1:c.3221G>C
- NM_001407619.1:c.3221G>C
- NM_001407620.1:c.3221G>C
- NM_001407621.1:c.3221G>C
- NM_001407622.1:c.3221G>C
- NM_001407623.1:c.3221G>C
- NM_001407624.1:c.3221G>C
- NM_001407625.1:c.3221G>C
- NM_001407626.1:c.3221G>C
- NM_001407627.1:c.3218G>C
- NM_001407628.1:c.3218G>C
- NM_001407629.1:c.3218G>C
- NM_001407630.1:c.3218G>C
- NM_001407631.1:c.3218G>C
- NM_001407632.1:c.3218G>C
- NM_001407633.1:c.3218G>C
- NM_001407634.1:c.3218G>C
- NM_001407635.1:c.3218G>C
- NM_001407636.1:c.3218G>C
- NM_001407637.1:c.3218G>C
- NM_001407638.1:c.3218G>C
- NM_001407639.1:c.3221G>C
- NM_001407640.1:c.3221G>C
- NM_001407641.1:c.3221G>C
- NM_001407642.1:c.3221G>C
- NM_001407644.1:c.3218G>C
- NM_001407645.1:c.3218G>C
- NM_001407646.1:c.3212G>C
- NM_001407647.1:c.3212G>C
- NM_001407648.1:c.3098G>C
- NM_001407649.1:c.3095G>C
- NM_001407652.1:c.3221G>C
- NM_001407653.1:c.3143G>C
- NM_001407654.1:c.3143G>C
- NM_001407655.1:c.3143G>C
- NM_001407656.1:c.3143G>C
- NM_001407657.1:c.3143G>C
- NM_001407658.1:c.3143G>C
- NM_001407659.1:c.3140G>C
- NM_001407660.1:c.3140G>C
- NM_001407661.1:c.3140G>C
- NM_001407662.1:c.3140G>C
- NM_001407663.1:c.3143G>C
- NM_001407664.1:c.3098G>C
- NM_001407665.1:c.3098G>C
- NM_001407666.1:c.3098G>C
- NM_001407667.1:c.3098G>C
- NM_001407668.1:c.3098G>C
- NM_001407669.1:c.3098G>C
- NM_001407670.1:c.3095G>C
- NM_001407671.1:c.3095G>C
- NM_001407672.1:c.3095G>C
- NM_001407673.1:c.3095G>C
- NM_001407674.1:c.3098G>C
- NM_001407675.1:c.3098G>C
- NM_001407676.1:c.3098G>C
- NM_001407677.1:c.3098G>C
- NM_001407678.1:c.3098G>C
- NM_001407679.1:c.3098G>C
- NM_001407680.1:c.3098G>C
- NM_001407681.1:c.3098G>C
- NM_001407682.1:c.3098G>C
- NM_001407683.1:c.3098G>C
- NM_001407684.1:c.3221G>C
- NM_001407685.1:c.3095G>C
- NM_001407686.1:c.3095G>C
- NM_001407687.1:c.3095G>C
- NM_001407688.1:c.3095G>C
- NM_001407689.1:c.3095G>C
- NM_001407690.1:c.3095G>C
- NM_001407691.1:c.3095G>C
- NM_001407692.1:c.3080G>C
- NM_001407694.1:c.3080G>C
- NM_001407695.1:c.3080G>C
- NM_001407696.1:c.3080G>C
- NM_001407697.1:c.3080G>C
- NM_001407698.1:c.3080G>C
- NM_001407724.1:c.3080G>C
- NM_001407725.1:c.3080G>C
- NM_001407726.1:c.3080G>C
- NM_001407727.1:c.3080G>C
- NM_001407728.1:c.3080G>C
- NM_001407729.1:c.3080G>C
- NM_001407730.1:c.3080G>C
- NM_001407731.1:c.3080G>C
- NM_001407732.1:c.3080G>C
- NM_001407733.1:c.3080G>C
- NM_001407734.1:c.3080G>C
- NM_001407735.1:c.3080G>C
- NM_001407736.1:c.3080G>C
- NM_001407737.1:c.3080G>C
- NM_001407738.1:c.3080G>C
- NM_001407739.1:c.3080G>C
- NM_001407740.1:c.3077G>C
- NM_001407741.1:c.3077G>C
- NM_001407742.1:c.3077G>C
- NM_001407743.1:c.3077G>C
- NM_001407744.1:c.3077G>C
- NM_001407745.1:c.3077G>C
- NM_001407746.1:c.3077G>C
- NM_001407747.1:c.3077G>C
- NM_001407748.1:c.3077G>C
- NM_001407749.1:c.3077G>C
- NM_001407750.1:c.3080G>C
- NM_001407751.1:c.3080G>C
- NM_001407752.1:c.3080G>C
- NM_001407838.1:c.3077G>C
- NM_001407839.1:c.3077G>C
- NM_001407841.1:c.3077G>C
- NM_001407842.1:c.3077G>C
- NM_001407843.1:c.3077G>C
- NM_001407844.1:c.3077G>C
- NM_001407845.1:c.3077G>C
- NM_001407846.1:c.3077G>C
- NM_001407847.1:c.3077G>C
- NM_001407848.1:c.3077G>C
- NM_001407849.1:c.3077G>C
- NM_001407850.1:c.3080G>C
- NM_001407851.1:c.3080G>C
- NM_001407852.1:c.3080G>C
- NM_001407853.1:c.3008G>C
- NM_001407854.1:c.3221G>C
- NM_001407858.1:c.3221G>C
- NM_001407859.1:c.3221G>C
- NM_001407860.1:c.3218G>C
- NM_001407861.1:c.3218G>C
- NM_001407862.1:c.3020G>C
- NM_001407863.1:c.3098G>C
- NM_001407874.1:c.3017G>C
- NM_001407875.1:c.3017G>C
- NM_001407879.1:c.3011G>C
- NM_001407881.1:c.3011G>C
- NM_001407882.1:c.3011G>C
- NM_001407884.1:c.3011G>C
- NM_001407885.1:c.3011G>C
- NM_001407886.1:c.3011G>C
- NM_001407887.1:c.3011G>C
- NM_001407889.1:c.3011G>C
- NM_001407894.1:c.3008G>C
- NM_001407895.1:c.3008G>C
- NM_001407896.1:c.3008G>C
- NM_001407897.1:c.3008G>C
- NM_001407898.1:c.3008G>C
- NM_001407899.1:c.3008G>C
- NM_001407900.1:c.3011G>C
- NM_001407902.1:c.3011G>C
- NM_001407904.1:c.3011G>C
- NM_001407906.1:c.3011G>C
- NM_001407907.1:c.3011G>C
- NM_001407908.1:c.3011G>C
- NM_001407909.1:c.3011G>C
- NM_001407910.1:c.3011G>C
- NM_001407915.1:c.3008G>C
- NM_001407916.1:c.3008G>C
- NM_001407917.1:c.3008G>C
- NM_001407918.1:c.3008G>C
- NM_001407919.1:c.3098G>C
- NM_001407920.1:c.2957G>C
- NM_001407921.1:c.2957G>C
- NM_001407922.1:c.2957G>C
- NM_001407923.1:c.2957G>C
- NM_001407924.1:c.2957G>C
- NM_001407925.1:c.2957G>C
- NM_001407926.1:c.2957G>C
- NM_001407927.1:c.2957G>C
- NM_001407928.1:c.2957G>C
- NM_001407929.1:c.2957G>C
- NM_001407930.1:c.2954G>C
- NM_001407931.1:c.2954G>C
- NM_001407932.1:c.2954G>C
- NM_001407933.1:c.2957G>C
- NM_001407934.1:c.2954G>C
- NM_001407935.1:c.2957G>C
- NM_001407936.1:c.2954G>C
- NM_001407937.1:c.3098G>C
- NM_001407938.1:c.3098G>C
- NM_001407939.1:c.3098G>C
- NM_001407940.1:c.3095G>C
- NM_001407941.1:c.3095G>C
- NM_001407942.1:c.3080G>C
- NM_001407943.1:c.3077G>C
- NM_001407944.1:c.3080G>C
- NM_001407945.1:c.3080G>C
- NM_001407946.1:c.2888G>C
- NM_001407947.1:c.2888G>C
- NM_001407948.1:c.2888G>C
- NM_001407949.1:c.2888G>C
- NM_001407950.1:c.2888G>C
- NM_001407951.1:c.2888G>C
- NM_001407952.1:c.2888G>C
- NM_001407953.1:c.2888G>C
- NM_001407954.1:c.2885G>C
- NM_001407955.1:c.2885G>C
- NM_001407956.1:c.2885G>C
- NM_001407957.1:c.2888G>C
- NM_001407958.1:c.2885G>C
- NM_001407959.1:c.2840G>C
- NM_001407960.1:c.2840G>C
- NM_001407962.1:c.2837G>C
- NM_001407963.1:c.2840G>C
- NM_001407964.1:c.3077G>C
- NM_001407965.1:c.2717G>C
- NM_001407966.1:c.2333G>C
- NM_001407967.1:c.2333G>C
- NM_001407968.1:c.788-171G>C
- NM_001407969.1:c.788-171G>C
- NM_001407970.1:c.788-1278G>C
- NM_001407971.1:c.788-1278G>C
- NM_001407972.1:c.785-1278G>C
- NM_001407973.1:c.788-1278G>C
- NM_001407974.1:c.788-1278G>C
- NM_001407975.1:c.788-1278G>C
- NM_001407976.1:c.788-1278G>C
- NM_001407977.1:c.788-1278G>C
- NM_001407978.1:c.788-1278G>C
- NM_001407979.1:c.788-1278G>C
- NM_001407980.1:c.788-1278G>C
- NM_001407981.1:c.788-1278G>C
- NM_001407982.1:c.788-1278G>C
- NM_001407983.1:c.788-1278G>C
- NM_001407984.1:c.785-1278G>C
- NM_001407985.1:c.785-1278G>C
- NM_001407986.1:c.785-1278G>C
- NM_001407990.1:c.788-1278G>C
- NM_001407991.1:c.785-1278G>C
- NM_001407992.1:c.785-1278G>C
- NM_001407993.1:c.788-1278G>C
- NM_001408392.1:c.785-1278G>C
- NM_001408396.1:c.785-1278G>C
- NM_001408397.1:c.785-1278G>C
- NM_001408398.1:c.785-1278G>C
- NM_001408399.1:c.785-1278G>C
- NM_001408400.1:c.785-1278G>C
- NM_001408401.1:c.785-1278G>C
- NM_001408402.1:c.785-1278G>C
- NM_001408403.1:c.788-1278G>C
- NM_001408404.1:c.788-1278G>C
- NM_001408406.1:c.791-1287G>C
- NM_001408407.1:c.785-1278G>C
- NM_001408408.1:c.779-1278G>C
- NM_001408409.1:c.710-1278G>C
- NM_001408410.1:c.647-1278G>C
- NM_001408411.1:c.710-1278G>C
- NM_001408412.1:c.710-1278G>C
- NM_001408413.1:c.707-1278G>C
- NM_001408414.1:c.710-1278G>C
- NM_001408415.1:c.710-1278G>C
- NM_001408416.1:c.707-1278G>C
- NM_001408418.1:c.671-1278G>C
- NM_001408419.1:c.671-1278G>C
- NM_001408420.1:c.671-1278G>C
- NM_001408421.1:c.668-1278G>C
- NM_001408422.1:c.671-1278G>C
- NM_001408423.1:c.671-1278G>C
- NM_001408424.1:c.668-1278G>C
- NM_001408425.1:c.665-1278G>C
- NM_001408426.1:c.665-1278G>C
- NM_001408427.1:c.665-1278G>C
- NM_001408428.1:c.665-1278G>C
- NM_001408429.1:c.665-1278G>C
- NM_001408430.1:c.665-1278G>C
- NM_001408431.1:c.668-1278G>C
- NM_001408432.1:c.662-1278G>C
- NM_001408433.1:c.662-1278G>C
- NM_001408434.1:c.662-1278G>C
- NM_001408435.1:c.662-1278G>C
- NM_001408436.1:c.665-1278G>C
- NM_001408437.1:c.665-1278G>C
- NM_001408438.1:c.665-1278G>C
- NM_001408439.1:c.665-1278G>C
- NM_001408440.1:c.665-1278G>C
- NM_001408441.1:c.665-1278G>C
- NM_001408442.1:c.665-1278G>C
- NM_001408443.1:c.665-1278G>C
- NM_001408444.1:c.665-1278G>C
- NM_001408445.1:c.662-1278G>C
- NM_001408446.1:c.662-1278G>C
- NM_001408447.1:c.662-1278G>C
- NM_001408448.1:c.662-1278G>C
- NM_001408450.1:c.662-1278G>C
- NM_001408451.1:c.653-1278G>C
- NM_001408452.1:c.647-1278G>C
- NM_001408453.1:c.647-1278G>C
- NM_001408454.1:c.647-1278G>C
- NM_001408455.1:c.647-1278G>C
- NM_001408456.1:c.647-1278G>C
- NM_001408457.1:c.647-1278G>C
- NM_001408458.1:c.647-1278G>C
- NM_001408459.1:c.647-1278G>C
- NM_001408460.1:c.647-1278G>C
- NM_001408461.1:c.647-1278G>C
- NM_001408462.1:c.644-1278G>C
- NM_001408463.1:c.644-1278G>C
- NM_001408464.1:c.644-1278G>C
- NM_001408465.1:c.644-1278G>C
- NM_001408466.1:c.647-1278G>C
- NM_001408467.1:c.647-1278G>C
- NM_001408468.1:c.644-1278G>C
- NM_001408469.1:c.647-1278G>C
- NM_001408470.1:c.644-1278G>C
- NM_001408472.1:c.788-1278G>C
- NM_001408473.1:c.785-1278G>C
- NM_001408474.1:c.587-1278G>C
- NM_001408475.1:c.584-1278G>C
- NM_001408476.1:c.587-1278G>C
- NM_001408478.1:c.578-1278G>C
- NM_001408479.1:c.578-1278G>C
- NM_001408480.1:c.578-1278G>C
- NM_001408481.1:c.578-1278G>C
- NM_001408482.1:c.578-1278G>C
- NM_001408483.1:c.578-1278G>C
- NM_001408484.1:c.578-1278G>C
- NM_001408485.1:c.578-1278G>C
- NM_001408489.1:c.578-1278G>C
- NM_001408490.1:c.575-1278G>C
- NM_001408491.1:c.575-1278G>C
- NM_001408492.1:c.578-1278G>C
- NM_001408493.1:c.575-1278G>C
- NM_001408494.1:c.548-1278G>C
- NM_001408495.1:c.545-1278G>C
- NM_001408496.1:c.524-1278G>C
- NM_001408497.1:c.524-1278G>C
- NM_001408498.1:c.524-1278G>C
- NM_001408499.1:c.524-1278G>C
- NM_001408500.1:c.524-1278G>C
- NM_001408501.1:c.524-1278G>C
- NM_001408502.1:c.455-1278G>C
- NM_001408503.1:c.521-1278G>C
- NM_001408504.1:c.521-1278G>C
- NM_001408505.1:c.521-1278G>C
- NM_001408506.1:c.461-1278G>C
- NM_001408507.1:c.461-1278G>C
- NM_001408508.1:c.452-1278G>C
- NM_001408509.1:c.452-1278G>C
- NM_001408510.1:c.407-1278G>C
- NM_001408511.1:c.404-1278G>C
- NM_001408512.1:c.284-1278G>C
- NM_001408513.1:c.578-1278G>C
- NM_001408514.1:c.578-1278G>C
- NM_007294.4:c.3221G>CMANE SELECT
- NM_007297.4:c.3080G>C
- NM_007298.4:c.788-1278G>C
- NM_007299.4:c.788-1278G>C
- NM_007300.4:c.3221G>C
- NP_001394500.1:p.Arg1003Thr
- NP_001394510.1:p.Arg1074Thr
- NP_001394511.1:p.Arg1074Thr
- NP_001394512.1:p.Arg1074Thr
- NP_001394514.1:p.Arg1074Thr
- NP_001394516.1:p.Arg1073Thr
- NP_001394519.1:p.Arg1073Thr
- NP_001394520.1:p.Arg1073Thr
- NP_001394522.1:p.Arg1074Thr
- NP_001394523.1:p.Arg1074Thr
- NP_001394525.1:p.Arg1074Thr
- NP_001394526.1:p.Arg1074Thr
- NP_001394527.1:p.Arg1074Thr
- NP_001394531.1:p.Arg1074Thr
- NP_001394532.1:p.Arg1074Thr
- NP_001394534.1:p.Arg1074Thr
- NP_001394539.1:p.Arg1073Thr
- NP_001394540.1:p.Arg1073Thr
- NP_001394541.1:p.Arg1073Thr
- NP_001394542.1:p.Arg1073Thr
- NP_001394543.1:p.Arg1073Thr
- NP_001394544.1:p.Arg1073Thr
- NP_001394545.1:p.Arg1074Thr
- NP_001394546.1:p.Arg1074Thr
- NP_001394547.1:p.Arg1074Thr
- NP_001394548.1:p.Arg1074Thr
- NP_001394549.1:p.Arg1074Thr
- NP_001394550.1:p.Arg1074Thr
- NP_001394551.1:p.Arg1074Thr
- NP_001394552.1:p.Arg1074Thr
- NP_001394553.1:p.Arg1074Thr
- NP_001394554.1:p.Arg1074Thr
- NP_001394555.1:p.Arg1074Thr
- NP_001394556.1:p.Arg1073Thr
- NP_001394557.1:p.Arg1073Thr
- NP_001394558.1:p.Arg1073Thr
- NP_001394559.1:p.Arg1073Thr
- NP_001394560.1:p.Arg1073Thr
- NP_001394561.1:p.Arg1073Thr
- NP_001394562.1:p.Arg1073Thr
- NP_001394563.1:p.Arg1073Thr
- NP_001394564.1:p.Arg1073Thr
- NP_001394565.1:p.Arg1073Thr
- NP_001394566.1:p.Arg1073Thr
- NP_001394567.1:p.Arg1073Thr
- NP_001394568.1:p.Arg1074Thr
- NP_001394569.1:p.Arg1074Thr
- NP_001394570.1:p.Arg1074Thr
- NP_001394571.1:p.Arg1074Thr
- NP_001394573.1:p.Arg1073Thr
- NP_001394574.1:p.Arg1073Thr
- NP_001394575.1:p.Arg1071Thr
- NP_001394576.1:p.Arg1071Thr
- NP_001394577.1:p.Arg1033Thr
- NP_001394578.1:p.Arg1032Thr
- NP_001394581.1:p.Arg1074Thr
- NP_001394582.1:p.Arg1048Thr
- NP_001394583.1:p.Arg1048Thr
- NP_001394584.1:p.Arg1048Thr
- NP_001394585.1:p.Arg1048Thr
- NP_001394586.1:p.Arg1048Thr
- NP_001394587.1:p.Arg1048Thr
- NP_001394588.1:p.Arg1047Thr
- NP_001394589.1:p.Arg1047Thr
- NP_001394590.1:p.Arg1047Thr
- NP_001394591.1:p.Arg1047Thr
- NP_001394592.1:p.Arg1048Thr
- NP_001394593.1:p.Arg1033Thr
- NP_001394594.1:p.Arg1033Thr
- NP_001394595.1:p.Arg1033Thr
- NP_001394596.1:p.Arg1033Thr
- NP_001394597.1:p.Arg1033Thr
- NP_001394598.1:p.Arg1033Thr
- NP_001394599.1:p.Arg1032Thr
- NP_001394600.1:p.Arg1032Thr
- NP_001394601.1:p.Arg1032Thr
- NP_001394602.1:p.Arg1032Thr
- NP_001394603.1:p.Arg1033Thr
- NP_001394604.1:p.Arg1033Thr
- NP_001394605.1:p.Arg1033Thr
- NP_001394606.1:p.Arg1033Thr
- NP_001394607.1:p.Arg1033Thr
- NP_001394608.1:p.Arg1033Thr
- NP_001394609.1:p.Arg1033Thr
- NP_001394610.1:p.Arg1033Thr
- NP_001394611.1:p.Arg1033Thr
- NP_001394612.1:p.Arg1033Thr
- NP_001394613.1:p.Arg1074Thr
- NP_001394614.1:p.Arg1032Thr
- NP_001394615.1:p.Arg1032Thr
- NP_001394616.1:p.Arg1032Thr
- NP_001394617.1:p.Arg1032Thr
- NP_001394618.1:p.Arg1032Thr
- NP_001394619.1:p.Arg1032Thr
- NP_001394620.1:p.Arg1032Thr
- NP_001394621.1:p.Arg1027Thr
- NP_001394623.1:p.Arg1027Thr
- NP_001394624.1:p.Arg1027Thr
- NP_001394625.1:p.Arg1027Thr
- NP_001394626.1:p.Arg1027Thr
- NP_001394627.1:p.Arg1027Thr
- NP_001394653.1:p.Arg1027Thr
- NP_001394654.1:p.Arg1027Thr
- NP_001394655.1:p.Arg1027Thr
- NP_001394656.1:p.Arg1027Thr
- NP_001394657.1:p.Arg1027Thr
- NP_001394658.1:p.Arg1027Thr
- NP_001394659.1:p.Arg1027Thr
- NP_001394660.1:p.Arg1027Thr
- NP_001394661.1:p.Arg1027Thr
- NP_001394662.1:p.Arg1027Thr
- NP_001394663.1:p.Arg1027Thr
- NP_001394664.1:p.Arg1027Thr
- NP_001394665.1:p.Arg1027Thr
- NP_001394666.1:p.Arg1027Thr
- NP_001394667.1:p.Arg1027Thr
- NP_001394668.1:p.Arg1027Thr
- NP_001394669.1:p.Arg1026Thr
- NP_001394670.1:p.Arg1026Thr
- NP_001394671.1:p.Arg1026Thr
- NP_001394672.1:p.Arg1026Thr
- NP_001394673.1:p.Arg1026Thr
- NP_001394674.1:p.Arg1026Thr
- NP_001394675.1:p.Arg1026Thr
- NP_001394676.1:p.Arg1026Thr
- NP_001394677.1:p.Arg1026Thr
- NP_001394678.1:p.Arg1026Thr
- NP_001394679.1:p.Arg1027Thr
- NP_001394680.1:p.Arg1027Thr
- NP_001394681.1:p.Arg1027Thr
- NP_001394767.1:p.Arg1026Thr
- NP_001394768.1:p.Arg1026Thr
- NP_001394770.1:p.Arg1026Thr
- NP_001394771.1:p.Arg1026Thr
- NP_001394772.1:p.Arg1026Thr
- NP_001394773.1:p.Arg1026Thr
- NP_001394774.1:p.Arg1026Thr
- NP_001394775.1:p.Arg1026Thr
- NP_001394776.1:p.Arg1026Thr
- NP_001394777.1:p.Arg1026Thr
- NP_001394778.1:p.Arg1026Thr
- NP_001394779.1:p.Arg1027Thr
- NP_001394780.1:p.Arg1027Thr
- NP_001394781.1:p.Arg1027Thr
- NP_001394782.1:p.Arg1003Thr
- NP_001394783.1:p.Arg1074Thr
- NP_001394787.1:p.Arg1074Thr
- NP_001394788.1:p.Arg1074Thr
- NP_001394789.1:p.Arg1073Thr
- NP_001394790.1:p.Arg1073Thr
- NP_001394791.1:p.Arg1007Thr
- NP_001394792.1:p.Arg1033Thr
- NP_001394803.1:p.Arg1006Thr
- NP_001394804.1:p.Arg1006Thr
- NP_001394808.1:p.Arg1004Thr
- NP_001394810.1:p.Arg1004Thr
- NP_001394811.1:p.Arg1004Thr
- NP_001394813.1:p.Arg1004Thr
- NP_001394814.1:p.Arg1004Thr
- NP_001394815.1:p.Arg1004Thr
- NP_001394816.1:p.Arg1004Thr
- NP_001394818.1:p.Arg1004Thr
- NP_001394823.1:p.Arg1003Thr
- NP_001394824.1:p.Arg1003Thr
- NP_001394825.1:p.Arg1003Thr
- NP_001394826.1:p.Arg1003Thr
- NP_001394827.1:p.Arg1003Thr
- NP_001394828.1:p.Arg1003Thr
- NP_001394829.1:p.Arg1004Thr
- NP_001394831.1:p.Arg1004Thr
- NP_001394833.1:p.Arg1004Thr
- NP_001394835.1:p.Arg1004Thr
- NP_001394836.1:p.Arg1004Thr
- NP_001394837.1:p.Arg1004Thr
- NP_001394838.1:p.Arg1004Thr
- NP_001394839.1:p.Arg1004Thr
- NP_001394844.1:p.Arg1003Thr
- NP_001394845.1:p.Arg1003Thr
- NP_001394846.1:p.Arg1003Thr
- NP_001394847.1:p.Arg1003Thr
- NP_001394848.1:p.Arg1033Thr
- NP_001394849.1:p.Arg986Thr
- NP_001394850.1:p.Arg986Thr
- NP_001394851.1:p.Arg986Thr
- NP_001394852.1:p.Arg986Thr
- NP_001394853.1:p.Arg986Thr
- NP_001394854.1:p.Arg986Thr
- NP_001394855.1:p.Arg986Thr
- NP_001394856.1:p.Arg986Thr
- NP_001394857.1:p.Arg986Thr
- NP_001394858.1:p.Arg986Thr
- NP_001394859.1:p.Arg985Thr
- NP_001394860.1:p.Arg985Thr
- NP_001394861.1:p.Arg985Thr
- NP_001394862.1:p.Arg986Thr
- NP_001394863.1:p.Arg985Thr
- NP_001394864.1:p.Arg986Thr
- NP_001394865.1:p.Arg985Thr
- NP_001394866.1:p.Arg1033Thr
- NP_001394867.1:p.Arg1033Thr
- NP_001394868.1:p.Arg1033Thr
- NP_001394869.1:p.Arg1032Thr
- NP_001394870.1:p.Arg1032Thr
- NP_001394871.1:p.Arg1027Thr
- NP_001394872.1:p.Arg1026Thr
- NP_001394873.1:p.Arg1027Thr
- NP_001394874.1:p.Arg1027Thr
- NP_001394875.1:p.Arg963Thr
- NP_001394876.1:p.Arg963Thr
- NP_001394877.1:p.Arg963Thr
- NP_001394878.1:p.Arg963Thr
- NP_001394879.1:p.Arg963Thr
- NP_001394880.1:p.Arg963Thr
- NP_001394881.1:p.Arg963Thr
- NP_001394882.1:p.Arg963Thr
- NP_001394883.1:p.Arg962Thr
- NP_001394884.1:p.Arg962Thr
- NP_001394885.1:p.Arg962Thr
- NP_001394886.1:p.Arg963Thr
- NP_001394887.1:p.Arg962Thr
- NP_001394888.1:p.Arg947Thr
- NP_001394889.1:p.Arg947Thr
- NP_001394891.1:p.Arg946Thr
- NP_001394892.1:p.Arg947Thr
- NP_001394893.1:p.Arg1026Thr
- NP_001394894.1:p.Arg906Thr
- NP_001394895.1:p.Arg778Thr
- NP_001394896.1:p.Arg778Thr
- NP_009225.1:p.Arg1074Thr
- NP_009225.1:p.Arg1074Thr
- NP_009228.2:p.Arg1027Thr
- NP_009231.2:p.Arg1074Thr
- LRG_292t1:c.3221G>C
- LRG_292:g.125674G>C
- LRG_292p1:p.Arg1074Thr
- NC_000017.10:g.41244327C>G
- NM_007294.3:c.3221G>C
- NR_027676.1:n.3357G>C
- p.R1074T
This HGVS expression did not pass validation- Protein change:
- R1003T
- Links:
- dbSNP: rs786202155
- NCBI 1000 Genomes Browser:
- rs786202155
- Molecular consequence:
- NM_001407968.1:c.788-171G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.788-171G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-1287G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-1278G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.3008G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.3212G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.3212G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.3095G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.3143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.3143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.3143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.3143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.3143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.3143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.3140G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.3140G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.3140G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.3140G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.3143G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.3095G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.3095G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.3095G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.3095G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.3095G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.3095G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.3095G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.3095G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.3095G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.3095G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.3095G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.3008G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.3218G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.3020G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.3017G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.3017G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.3008G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.3008G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.3008G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.3008G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.3008G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.3008G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.3011G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.3008G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.3008G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.3008G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.3008G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.2957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.2957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.2957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.2957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.2957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.2957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.2957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.2957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.2957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.2957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.2954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.2954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.2954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.2957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.2954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.2957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.2954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.3098G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.3095G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.3095G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.2888G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.2888G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.2888G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.2888G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.2888G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.2888G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.2888G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.2888G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.2885G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.2885G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.2885G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.2888G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.2885G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.2840G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.2840G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.2837G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.2840G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.3077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.2717G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.2333G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.2333G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.3080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000215509 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Nov 16, 2023) | germline | clinical testing | |
SCV000909314 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance (Jun 22, 2019) | germline | clinical testing | |
SCV003850776 | University of Washington Department of Laboratory Medicine, University of Washington | criteria provided, single submitter (Dines et al. (Genet Med. 2020)) | Likely benign (Mar 23, 2023) | germline | curation |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing, curation |
Citations
PubMed
Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.
Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.
- PMID:
- 20104584
- PMCID:
- PMC2928257
Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.
Capanu M, Concannon P, Haile RW, Bernstein L, Malone KE, Lynch CF, Liang X, Teraoka SN, Diep AT, Thomas DC, Bernstein JL; WECARE Study Collaborative Group., Begg CB.
Genet Epidemiol. 2011 Jul;35(5):389-97. doi: 10.1002/gepi.20587. Epub 2011 Apr 25.
- PMID:
- 21520273
- PMCID:
- PMC3111904
Details of each submission
From Ambry Genetics, SCV000215509.7
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (2) |
Description
The p.R1074T variant (also known as c.3221G>C), located in coding exon 9 of the BRCA1 gene, results from a G to C substitution at nucleotide position 3221. The arginine at codon 1074 is replaced by threonine, an amino acid with similar properties. This alteration was previously reported in 0/1398 unilateral breast cancer cases and 1/705 bilateral breast cancer cases in a population based study (Borg A et al. Hum. Mutat. 2010 Mar; 31(3):E1200-40; Capanu M et al. Genet. Epidemiol., 2011 Jul;35:389-97). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Color Diagnostics, LLC DBA Color Health, SCV000909314.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From University of Washington Department of Laboratory Medicine, University of Washington, SCV003850776.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | PubMed (1) |
Description
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 8, 2024